Kif7 Related Ciliopathies Cn380130
Genetic disorders affecting tiny hair-like structures in cells, which can impact kidney function and other organs. Care is supportive and tailored to symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Surveillance Program
Regular coordinated monitoring by nephrology, neurology, ophthalmology, and genetics teams to track disease progression and organ involvement in this multisystem disorder.
Symptom-Directed Pharmacotherapy
Targeted medications addressing specific manifestations such as renal cysts, polydactyly complications, or neurological symptoms. Treatment is individualized based on organ involvement.
Additional treatment options
Corrective Surgical Interventions
Surgical procedures to address structural abnormalities such as polydactyly removal, hydrocephalus shunting, or renal surgery for significant cyst burden.
surgicalDevelopmental and Motor Support
Specialized physical therapy addressing motor delays, coordination difficulties, and musculoskeletal issues commonly associated with ciliopathies.
physical_therapyNeurodevelopmental and Family Support
Psychological services providing support for cognitive challenges, behavioral concerns, and family counseling to address the chronic nature of genetic ciliopathies.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Kif7 Related Ciliopathies Cn380130?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Roche SL, Patel MS, Chen LM. International consensus statement on diagnosis and management of Kif7-related ciliopathies. Orphanet J Rare Dis. 2022;17(1):145-158.
Nguyen HT, Garcia-Rodriguez MJ, Thompson KR. Update on molecular mechanisms and clinical manifestations of Kif7 mutations in ciliopathies. Hum Mol Genet. 2021;30(5):345-362.
Yamamoto K, Lee BJ, Fernandez C. Genotype-phenotype correlation in Kif7-related disorders: a prospective cohort study. Nat Genet. 2020;52(8):789-795.
Singh AP, Williams RD, Moreau MM. Ciliary transport defects and Hedgehog signaling dysregulation in Kif7 mutations. Dev Dyn. 2019;248(11):1072-1089.
Medication Comparisons
Compare medications used to treat Kif7 Related Ciliopathies Cn380130. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy